title: Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.
abstract: Within recent years, numerous individuals have been identified with terminal 4p microdeletions distal to the currently described critical regions for the Wolf-Hirschhorn syndrome (WHS). Some of these individuals do not display features consistent with WHS whereas others have a clinical phenotype with some overlap to the WHS phenotype. In this review we discuss the genetic and clinical presentation of these cases in an attempt to understand the consequence of monosomy of the genes distal to the proposed critical regions and identify the distal boundary for pathogenic genes involved in components of the WHS phenotype.
authors.affiliation: ARUP Laboratories, Salt Lake City, UT 84108, USA. sarah.south@aruplab.com
authors.forename: Sarah T
authors.initials: ST
authors.lastname: South
authors.forename: Femke
authors.initials: F
authors.lastname: Hannes
authors.forename: Gene S
authors.initials: GS
authors.lastname: Fisch
authors.forename: Joris Robert
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: Marcella
authors.initials: M
authors.lastname: Zollino
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D016615:Telomere / Q000235:genetics; D054877:Wolf-Hirschhorn Syndrome / Q000209:etiology / Q000235:genetics* / Q000473:pathology